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National Based, Retrospective Study on the Evaluation of Clinical, Laboratory, and Imaging Research of Angelman Syndrome- Turkey's Multicenter Study

Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with severe learning difficulties, ataxia, and dysmorphic facial features. It often has a characteristic epileptic EEG pattern. They are happy and social patients. There are often jerky movements, frequent and sometimes inappropriate laughter, water addiction, and sleep disturbance. Patients diagnosed with Angelman syndrome between January 2010 to January 2022 through a 17 centered retrospective study in Turkey were followed up for at least 3 months. Their presenting complaints, demographic data, radiological findings, electroencephalographic records, sleep disorders, intellectual disability, recurrent infections, medical treatment options, response to treatment and follow-up time, and evaluations in terms of psychosocial support were examined.

In a total of 102 pediatric patients, the mean age at presentation was 51.2 months. 48.3% seizures, 33.3% psychomotor retardation, 6.9% typical phenotype and behavior patterns, 2.9% speech disorders, psychiatric symptoms, easy excitability, sleep problems, and atypical autism, 6.9% attention-deficit admitted with hyperactivity disorder(ADHD). While not being able to speak at all was 43%, dysfunctional speaking was 35%. Intellectual disability was 76.4%. Behavior problems were 86%; Extremely friendly, unusually happy behavior pattern %67.6, frequent and unusual laughter %55.7, clapping hands 47%, difficulty walking was 90 %. Epilepsy frequency was 85%, and 61% was generalized. EEG rhythm was: Type1 persistent rhythmic 4–6Hz activity 32.8%, Type2 rhythmic delta 2–3Hz sharp spike-wave 45.2%, and Type 3 high amplitude 3-4 Hz sharp spike wave23 %.

It is an important genetic disorder that should be considered in behavior, language, and gait disorders accompanying a happy and social personality.
Keywords: epilepsy, angelman, speech disorders, difficulty walking

Hakan Gümüş
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Turkey

Ayten Güleç
Erciyes University Faculty of Medicine, Department of Pediatric Neurology

Mehmet Canpolat
Erciyes University Faculty of Medicine, Department of Pediatric Neurology

Betül Kılıç
Medipol University Faculty of Medicine, Department of Pediatric Neurology

Özlem Yılmaz
Medipol University Faculty of Medicine, Department of Pediatric Neurology

Yasemin Topçu
Medipol University Faculty of Medicine, Department of Pediatric Neurology

Seda Kanmaz
Ege University Faculty of Medicine, Department of Pediatric Neurology

Adnan Deniz
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology

Ünal Akça
Samsun Training and Research Hospital, Department of Pediatric Neurology

Gülten Öztürk

Muhammed Bahadır Samur
Erciyes University Faculty of Medicine, Department of Pediatric Neurology

Peren Perk Yücel
Trakya Medical University, Department of Pediatric Neurology

Dilara Füsun İçağasıoğlu
Bezmialem Vakıf University, Department of Pediatric Neurology

Aydan Değerliyurt
Ankara City Hospital, Department of Pediatric Neurology

Mesut Güngör
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology

Hülya İnce
VM Medical Park Samsun Hospital, Department of Pediatric Neurology

Pinar Ozkan
Karadeniz Technical University Faculty of Medicine, Department of Pediatric Neurology

Kürşad Aydın
Medipol University Faculty of Medicine, Department of Pediatric Neurology

Sanem Yılmaz
Ege University Faculty of Medicine, Department of Pediatric Neurology

Hasan Tekgül

Selcan Öztürk

Bülent Kara
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology

Burcu Karakayalı
Marmara University Medical University, Department of Pediatric Neurology

Gülen Gül Mert
Çukurova University Faculty of Medicine, Department of Pediatric Neurology.

Nihal Olgaç Dündar Dündar
İzmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Department of Pedia

Çisil Çerci Kubur
Celal Bayar University Faculty of Medicine, Department of Pediatric Neurology

Sedef Terzioglu Öztürk
Kahramanmaraş Sütçü İmam University Faculty of Medicine, Department of Pediatric Neurology

Pinar Gençpinar
İzmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Department of Pediatric Neurology

Aslıhan Kıraz
Kayseri City Hospital, Department of Genetics

Murat Erdoğan
Kayseri City Hospital, Department of Genetics

Munis Dündar

Hüseyin Per
Erciyes University Faculty of Medicine, Department of Pediatric Neurology

Turkish Pediatric Angelman Syndrome Study Group

 

 


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